Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_query_results
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
Li J et al.
Iscience, 2021
34746695 (PubMed )
Supplement: mmc1.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.
Morgan S et al.
Neurobiology of Aging, 2015
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
Herzfeld T et al.
Neurogenetics, 2009
An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin.
Soares DC et al.
Journal of Molecular Modeling, 2009
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